Functional assessment of IDUA variants of uncertain significance identified by newborn screening

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: Functional assessment of IDUA variants of uncertain significance identified by newborn screening ; volume:9 ; number:1 ; day:19 ; month:12 ; year:2024 ; pages:1-10 ; date:12.2024
npj Genomic Medicine ; 9, Heft 1 (19.12.2024), 1-10, 12.2024

Creator: Yu, Seok-Ho
Kubaski, Francyne
Arno, Gavin
Phinney, Whitney
Wood, Tim C.
Flanagan-Steet, Heather
Pollard, Laura M.
Steet, Richard

Contributor: SpringerLink (Online service)

DOI: 10.1038/s41525-024-00457-1

URN: urn:nbn:de:101:1-2503020608392.200244500679

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:25 AM CEST

Data provider

This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.

Show original at data provider

Associated

Yu, Seok-Ho
Kubaski, Francyne
Arno, Gavin
Phinney, Whitney
Wood, Tim C.
Flanagan-Steet, Heather
Pollard, Laura M.
Steet, Richard
SpringerLink (Online service)

Other Objects (12)

From uncertain to certain—how to proceed with variants of uncertain significance

KCNC2 variants of uncertain significance are also associated to various forms of epilepsy

"Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders"

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome

Correction: “Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders”

Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation

Functional assessment of missense variants of uncertain significance in the cancer susceptibility gene PALB2

Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?

Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes

Congenital pleuropulmonary blastoma in a newborn with a variant of uncertain significance in DICER1 evaluated by RNA-sequencing

A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia

From uncertain to certain—how to proceed with variants of uncertain significance

KCNC2 variants of uncertain significance are also associated to various forms of epilepsy

"Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders"

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome

Correction: “Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders”

Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation

Functional assessment of missense variants of uncertain significance in the cancer susceptibility gene PALB2

Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?

Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes

Congenital pleuropulmonary blastoma in a newborn with a variant of uncertain significance in DICER1 evaluated by RNA-sequencing

A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia

From uncertain to certain—how to proceed with variants of uncertain significance

KCNC2 variants of uncertain significance are also associated to various forms of epilepsy

"Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders"

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome

Correction: “Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders”

Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation

Functional assessment of missense variants of uncertain significance in the cancer susceptibility gene PALB2

Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?

Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes

Congenital pleuropulmonary blastoma in a newborn with a variant of uncertain significance in DICER1 evaluated by RNA-sequencing

A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia

Cultural heritage institutions wishing to register will find more information here.

Fields marked * need to be filled in.

Username*

Please enter your username

Email*

Please enter your email address

Please do not fill this field

First name

Last name

Password*

Please enter your password

Confirm password*

Please enter the same password

I have read the terms of use and the privacy policy for the collection of personal data and accept them. *

This field is required.

I would like to subscribe to the newsletter of the Deutsche Digitale Bibliothek. See newsletter subscription info.

Account created

Your "My DDB" account has been successfully created. Before you can log in to your account, you must click the confirmation link in the message we just sent to the email address you provided.

Functional assessment of IDUA variants of uncertain significance identified by newborn screening

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

From uncertain to certain—how to proceed with variants of uncertain significance

KCNC2 variants of uncertain significance are also associated to various forms of epilepsy

KCNC2 variants of uncertain significance are also associated to various forms of epilepsy

"Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders"

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome

Correction: “Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders”

Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation

Functional assessment of missense variants of uncertain significance in the cancer susceptibility gene PALB2

Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?

Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes

Congenital pleuropulmonary blastoma in a newborn with a variant of uncertain significance in DICER1 evaluated by RNA-sequencing

A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia

From uncertain to certain—how to proceed with variants of uncertain significance

KCNC2 variants of uncertain significance are also associated to various forms of epilepsy

KCNC2 variants of uncertain significance are also associated to various forms of epilepsy

"Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders"

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome

Correction: “Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders”

Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation

Functional assessment of missense variants of uncertain significance in the cancer susceptibility gene PALB2

Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?

Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes

Congenital pleuropulmonary blastoma in a newborn with a variant of uncertain significance in DICER1 evaluated by RNA-sequencing

A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia

From uncertain to certain—how to proceed with variants of uncertain significance

KCNC2 variants of uncertain significance are also associated to various forms of epilepsy

KCNC2 variants of uncertain significance are also associated to various forms of epilepsy

"Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders"

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome

Correction: “Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders”

Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation

Functional assessment of missense variants of uncertain significance in the cancer susceptibility gene PALB2

Variants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?

Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes

Congenital pleuropulmonary blastoma in a newborn with a variant of uncertain significance in DICER1 evaluated by RNA-sequencing

A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia

Related objects

Reset password